Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28936670
rs28936670
NKX2-5
17 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.020 1.000 2 2013 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1383983021
rs1383983021
EIF2AK3
3 0.882 0.160 2 88588014 missense variant T/C snv 0.010 < 0.001 1 2013 2013
dbSNP: rs2277923
rs2277923
NKX2-5
13 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2019 2019
dbSNP: rs368418329
rs368418329
GATA4
3 0.925 0.120 8 11708019 5 prime UTR variant G/T snv 5.9E-03 0.010 1.000 1 2019 2019
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
14 0.752 0.280 10 88941309 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs56166237
rs56166237
GATA4
4 0.882 0.120 8 11708411 missense variant G/T snv 3.6E-03 2.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs6489957
rs6489957
TBX5
4 0.925 0.120 12 114355808 synonymous variant G/A snv 4.4E-03 1.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs753571145
rs753571145
TFAP2B
2 0.925 0.120 6 50823507 missense variant C/G snv 1.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs766734961
rs766734961
ACTA2 ; STAMBPL1 ; ACTA2-AS1
4 0.851 0.160 10 88939548 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2012 2012